M. Al‐Muhaizea

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

P. Striano, H. Prokisch, Matteo P. Ferla, 2022, Human mutation.

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

J. Finsterer, B. Meyer, S. Bohlega, 2018, Case reports in genetics.

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype

Tariq Ahmad Masoodi, Z. Al-Hassnan, B. Meyer, 2017, American journal of medical genetics. Part A.

FP.24 RAINBOWFISH: Preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)

E. Bertini, E. Zanoteli, M. Farrar, 2022, Neuromuscular Disorders.

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

B. Meyer, D. Monies, D. Jaroudi, 2014, Neuromuscular Disorders.